Kabuki syndrome (Version 0.15)

Description

This panel was developed and is maintained by VCGS.

Panel Activity

1 reviewer

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

8 Entities

3 reviewed, 6 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 8 Entitiess
Green List (high evidence)	ACTB	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	CDK13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, MIM#617360 Tags
Green List (high evidence)	EBF3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	HNRNPK	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	KDM6A	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	KMT2D	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Amber List (moderate evidence)	RAP1A	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Kabuki syndrome Tags
Amber List (moderate evidence)	RAP1B	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654 Kabuki-like syndrome Tags

Downloads

Download lists

Download Version